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Functional analysis of evolutionary human methylated regions in schizophrenia patients

View ORCID ProfileNiladri Banerjee, Tatiana Polushina, Anne-Kristin Stavrum, Vidar Martin Steen, Stephanie Le Hellard
doi: https://doi.org/10.1101/540294
Niladri Banerjee
aNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway
bDr. Einar Martens Research Group for Biological Psychiatry, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
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  • ORCID record for Niladri Banerjee
Tatiana Polushina
aNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway
bDr. Einar Martens Research Group for Biological Psychiatry, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
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Anne-Kristin Stavrum
aNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway
bDr. Einar Martens Research Group for Biological Psychiatry, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
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Vidar Martin Steen
aNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway
bDr. Einar Martens Research Group for Biological Psychiatry, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
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Stephanie Le Hellard
aNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway
bDr. Einar Martens Research Group for Biological Psychiatry, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
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Abstract

Background Recent studies have implicated variations in DNA methylation in the aetiology of schizophrenia. Genome-wide scans in both brain and blood report differential methylated regions (DMRs) and positions (DMPs) between patients with schizophrenia and healthy controls. Previously, we reported that DMRs where human specific methylation (hDMR) has occurred over evolutionary time are enriched for schizophrenia-associated markers (SCZ_hDMR). However, it is unknown whether these human specific DMRs show variable methylation in patients with schizophrenia.

Methods Using publicly available data, we investigate if human specific DMRs that harbour genetic variants associated with schizophrenia are differentially methylated between cases and controls.

Results We find statistically significant (p < 1e-4) methylation difference in schizophrenia associated human specific DMRs (SCZ hDMR) between brain samples of cases and controls. However, we fail to find evidence of similar differences in methylation in blood samples.

Conclusion Regions that are evolutionarily important for human species and that are associated with schizophrenia, also show difference in methylation variation in the brain in patients with schizophrenia.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted February 05, 2019.
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Functional analysis of evolutionary human methylated regions in schizophrenia patients
Niladri Banerjee, Tatiana Polushina, Anne-Kristin Stavrum, Vidar Martin Steen, Stephanie Le Hellard
bioRxiv 540294; doi: https://doi.org/10.1101/540294
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Functional analysis of evolutionary human methylated regions in schizophrenia patients
Niladri Banerjee, Tatiana Polushina, Anne-Kristin Stavrum, Vidar Martin Steen, Stephanie Le Hellard
bioRxiv 540294; doi: https://doi.org/10.1101/540294

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